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  • Human LEMD3 wild-type allele is located in the vicinity of 12q14.3 and is approximately 79 kb in length. This allele, which encodes inner nuclear membrane protein Man1, plays a role in the downregulation of transforming growth factor beta (TGF-B) receptor signaling. Mutations in the gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
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